This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SMN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000370119.4:p.Leu260Phe
CA360086387
ENST00000380743.9:c.780G>C
CA360086388
ENST00000380743.9:c.780G>T